Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease

NCT ID: NCT05183165

Last Updated: 2025-12-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

20 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-05-11

Study Completion Date

2026-08-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

Wilson's disease is a rare genetic disease, affecting less than 1,500 people in France. The transmission is autosomal recessive linked to an anomaly of the ATP7B gene on chromosome.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member. If there is no mutation, this ATPase incorporates copper into apo-ceruloplasmin to be released into the blood serum. The mutation of the ATP7B gene results in a defective biliary excretion of copper, leading to its accumulation in the liver, but also in other organs such as the eye or the brain. Advances in treatment have dramatically changed the prognosis for Wilson's disease, making the desire for pregnancy more confident.

The consensus is to maintain treatment during pregnancy, reducing the dosage to limit teratogenicity as well as the risk of fetal copper deficiency.The mammary gland is the primary site of copper metabolism in lactation, and ATPase 7B is the primary effector.

It has been shown in a mouse model of Wilson's disease (ATP7B - / - mouse) with treatment, that mothers accumulate copper in the liver but also in the mammary gland.

However, a recent study showed that the copper level in breast milk was normal in 18 Wilsonian patients treated with D-penicillamine, trientine salts or zinc salts, suggesting that breastfeeding is possible in these patients without risk to the development of the infants.The problem of breastfeeding newborns for patients with Wilson's disease is therefore associated with a risk of copper deficiency in the newborn due to insufficiently rich breast milk in copper due to drugs.

In addition, the passage into breast milk of treatments is not sufficiently known.

These factors make breastfeeding not currently recommended for Wilsonian mothers,However, many patients wish to breastfeed and some of them breastfeed their newborns despite the risk of breastfeeding

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Wilson's Disease

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with Wilson's disease declaring pregnancy,

Patients with Wilson's disease declaring pregnancy.Followed in the reference, constituent, and competence centers for Wilson's disease and other rare copper-related diseases, spread over French national territory.

Group Type OTHER

Patients with Wilson's disease declaring pregnancy,

Intervention Type OTHER

Blood and urine biological assessment Dietary assessment

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Patients with Wilson's disease declaring pregnancy,

Blood and urine biological assessment Dietary assessment

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Patient aged 18 years or over.
* Wilson's disease fulfilling the criteria for the Leipzig score
* Pregnancy in progress whatever the term.
* Express consent to participate in the study.
* Affiliate or beneficiary of a social security system.

Criteria for non-inclusion :

* Liver transplant patient
* No affiliation to Social Security system
* VuInability to give free and informed consent
* Patient benefiting from a legal protection measure
Minimum Eligible Age

18 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Fondation Adolphe de Rothschild

Paris, , France

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

France

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Amélie YAVCHITZ

Role: CONTACT

01 48 03 64 54

Mickael Alexandre OBADIA

Role: CONTACT

01 48 03 62 52

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Amélie Yavchitz

Role: primary

01 48 03 64 54

Mickael Alexandre Obadia

Role: backup

01 48 03 62 52

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

AOA_2021_28

Identifier Type: -

Identifier Source: org_study_id